ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val)

gnomAD frequency: 0.00002  dbSNP: rs1060500939
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000527232 SCV000644450 likely benign Tuberous sclerosis 2 2024-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567911 SCV000675656 likely benign Hereditary cancer-predisposing syndrome 2022-08-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV000764028 SCV000894982 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000527232 SCV002039765 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV002225656 SCV002504473 likely benign not provided 2019-02-13 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000527232 SCV002584578 uncertain significance Tuberous sclerosis 2 2022-08-25 criteria provided, single submitter clinical testing The TSC2 c.3551C>T (p.Ala1184Val) missense change has a maximum subpopulation frequency of 0.0036% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL is inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. This variant has been reported in the literature in an individual with convention chordoma (PMID: 34070849). In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
PreventionGenetics, part of Exact Sciences RCV004735614 SCV005345254 uncertain significance TSC2-related disorder 2024-04-12 no assertion criteria provided clinical testing The TSC2 c.3551C>T variant is predicted to result in the amino acid substitution p.Ala1184Val. This variant was reported in an individual with chordoma (Yepes et al. 2021. PubMed ID: 34070849). This variant is reported in 0.0036% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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